NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter) AND Familial dysautonomia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002306519.2
Allele description [Variation Report for NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)]
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)
Condition(s)
- Name:
- Familial dysautonomia (HSAN3)
- Synonyms:
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900
Assertion and evidence details
Last Updated: Dec 24, 2022